Related gene-specific medical variations for Gene (Select 7109) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584839	NM_003274.5(TRAPPC10):c.14A>G (p.Glu5Gly)	LOC130066806, TRAPPC10 (E5G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, short stature, and speech delay	GUncertain significance
Select item 2534699	NM_003274.5(TRAPPC10):c.10T>C (p.Ser4Pro)	LOC130066806, TRAPPC10 (S4P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2377514	NM_003274.5(TRAPPC10):c.20C>T (p.Pro7Leu)	LOC130066806, TRAPPC10 (P7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361213	NM_003274.5(TRAPPC10):c.29C>T (p.Pro10Leu)	LOC130066806, TRAPPC10 (P10L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1691454	NM_003274.5(TRAPPC10):c.3222C>A (p.Cys1074Ter)	TRAPPC10 (C1074* +1 more)	Single nucleotide variant (nonsense)	TRAPPopathy microcephalic	GLikely pathogenic
Select item 993836	NM_003274.5(TRAPPC10):c.3670C>T (p.Pro1224Ser)	TRAPPC10 (P1224S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 91948	NM_003274.5(TRAPPC10):c.2929A>G (p.Ser977Gly)	TRAPPC10 (S977G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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